neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

info · Genetic

An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32.

Signs and symptoms

Axial hypotonia
Spastic tetraplegia
Micropenis
Microcephaly
Absent speech
Inability to walk
Hearing impairment
Thick eyebrow
Chorea
Midface retrusion

Also known as: NEDGTH